medigraphic.com
ISSN 1561-3194 (Electronic)

2017, Number 1

<< Back Next >>

Rev Ciencias Médicas 2017; 21 (1)

Thanatophoric dysplasia case presentation

Quintana GJÁ, Rubio RR

Language: Spanish
References: 7
Page: 130-134
PDF size: 248.80 Kb.


ABSTRACT

Introduction: thanatophoric dysplasias are characterized by narrow thorax with platyspondyly (flattening of vertebral bodies) and short limbs.
Clinical case: a case of lethal skeletal dysplasia is presented in one of the varieties known as type I thanatophoric dysplasia. A 32-year-old female with 22 weeks of gestation came to the ultrasound service at Copacabana Health Center in Alto, La Paz to perform ultrasound screening, where a male fetus with shortening of long bones in handset-phone shape, short fingers and narrow chest in relation to the abdomen were observed.
Conclusions: type I thanatophoric dysplasia was confirmed, genetic counseling was given and pregnancy termination was decided as a fetal abnormality incompatible with life.


REFERENCES

  1. Nelson DB, Dashe JS, McIntire DD, Twickler DM. Fetal skeletal dysplasias: sonographic indices associated with adverse outcomes. J Ultrasound Med [Internet]. 2014 Jun [citado 2015 Jul 24]; 33(6): [Aprox. 5p.]. Disponible en: https://www.ncbi.nlm.nih.gov/pubmed/24866616

  2. Chitty LS, Khalil A, Barrett AN, Pajkrt E, Griffin DR, Cole TJ. Safe, accurate, prenatal diagnosis of thanatophoric dysplasia using ultrasound and free fetal DNA. Prenat Diagn [Internet]. 2013 May [citado 2015 ago 24]; 33(5): [Aprox. 7p.]. Disponible en: http://www.ncbi.nlm.nih.gov/pubmed/?term=Safe%2C+accurate%2C+prenatal+diagnosis+of+thanatophoric+dysplasia+using+ultrasound+and+free

  3. Calder AD, Offiah AC. Fetal radiography for suspected skeletal dysplasia: technique, normal appearances, diagnostic approach. Pediatr Radiol [Internet]. 2015 Apr [citado 2016 jun 12]; 45(4): [Aprox. 12p.]. Disponible en: http://link.springer.com/article/10.1007/s00247-014-3130-x

  4. Carvajal N, Martínez-García M, Chagoyen M, Morcillo N, Pino A, Lorda I, et al. Clinical, genetics and bioinformaticscharacterization of a campomelicdysplasia case report.Gene. j. gene [Internet]. 2016 Feb [citado 2016 jun 15]; 577(2): [Aprox. 3p.]. Disponible en: http://www.ncbi.nlm.nih.gov/pubmed/26631621

  5. Barros CA, Rezende GC, Araujo Júnior E, Tonni G, Pereira AK. Prediction of lethal pulmonary hypoplasia by means fetal lung volume in skeletaldysplasias: a three-dimensional ultrasound assessment. J Matern Fetal Neonatal Med [Internet]. 2016 Jul [citado 2016 jul 15]; 29(11): [Aprox. 6p]. Disponible en: http://www.tandfonline.com/doi/abs/10.3109/14767058.2015.1064887

  6. Heinrich T, Nanda I, Rehn M, Zollner U, Ernestus K, Wirth C, et al. Co-Occurence of Reciprocal Translocation and COL2A1 Mutation in a Fetus with Severe Skeletal Dysplasia: Implications for Genetic Counselin. Cytogenet Genome Res.[Internet]. 2015 mar [citado 2015 oct 15]; 145(1): [Aprox. 3p.]. Disponible en: http://www.ncbi.nlm.nih.gov/pubmed/25823796

  7. Unanue MN, Moenne BK, Baar ZA. Manejo de Displasias Esqueléticas Revista Médica Clínica Las Condes[Internet]. 2015 abr [citado 2015 oct 15]; 26(4): [Aprox. 2p.]. Disponible en: http://www.sciencedirect.com/science/article/pii /S0716864015000954




2020     |     www.medigraphic.com